(Q79243195)

English

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls

scientific article published on 01 November 2006

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scholarly article

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Europe PubMed Central

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20 December 2019

DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls (English)

1 reference

Europe PubMed Central

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20 December 2019

author name string

Hsiao-Yuan Tang

1

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20 December 2019

Ping Fang

2

1 reference

Europe PubMed Central

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20 December 2019

Patricia A Ward

3

1 reference

Europe PubMed Central

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20 December 2019

Eric Schmitt

4

1 reference

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20 December 2019

Sandra Darilek

5

1 reference

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20 December 2019

Spiros Manolidis

6

1 reference

Europe PubMed Central

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20 December 2019

John S Oghalai

7

1 reference

Europe PubMed Central

PMC publication ID

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20 December 2019

Benjamin B Roa

8

1 reference

Europe PubMed Central

PMC publication ID

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20 December 2019

Raye Lynn Alford

9

1 reference

Europe PubMed Central

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20 December 2019

publication date

1 November 2006

1 reference

Europe PubMed Central

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20 December 2019

American Journal of Medical Genetics

1 reference

Europe PubMed Central

PMC publication ID

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20 December 2019

140

1 reference

Europe PubMed Central

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20 December 2019

22

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Europe PubMed Central

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20 December 2019

2401-2415

1 reference

Europe PubMed Central

PMC publication ID

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20 December 2019

High frequency hearing loss correlated with mutations in the GJB2 gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin26 mutations associated with nonsyndromic hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular genetics of hearing impairment due to mutations in gap junction genes encoding beta connexins

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic testing for hereditary hearing loss: connexin 26 (GJB2) allele variants and two novel deafness-causing mutations (R32C and 645-648delTAGA).

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin mutations in skin disease and hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 (GJB2) mutations in the Turkish population: implications for the origin and high frequency of the 35delG mutation in Caucasians

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Nomenclature for the description of human sequence variations.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 Gene Mutations in Congenitally Deaf Children

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of GJB2 gene mutations in Polish patients with prelingual nonsyndromic deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 studies in patients with sensorineural hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence and nature of connexin 26 mutations in children with non-syndromic deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Understanding human disease mutations through the use of interspecific genetic variation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin disorders of the skin.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 gene (GJB2) mutation modulates the severity of hearing loss associated with the 1555A-->G mitochondrial mutation.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The Colorado newborn hearing screening project, 1992-1999: on the threshold of effective population-based universal newborn hearing screening

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Missense mutations in GJB2 encoding connexin-26 cause the ectodermal dysplasia keratitis-ichthyosis-deafness syndrome

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin mutations in hearing loss, dermatological and neurological disorders.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

HID and KID syndromes are associated with the same connexin 26 mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prevalence of GJB2 mutations in prelingual deafness in the Greek population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetics Evaluation Guidelines for the Etiologic Diagnosis of Congenital Hearing Loss. Genetic Evaluation of Congenital Hearing Loss Expert Panel. ACMG statement

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The prevalence of connexin 26 ( GJB2) mutations in the Chinese population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prelingual nonsyndromic hearing loss in Greece. Molecular and clinical findings.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional analysis of connexin-26 mutants associated with hereditary recessive deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genotypic and phenotypic correlations of DFNB1-related hearing impairment in the Midwestern United States

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 mutations and nonsyndromic hearing impairment in Northern Finland

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 gene mutations causing familial hereditary deafness in Turkey.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel GJB2 (connexin 26) mutation, F142L, in a patient with unusual mucocutaneous findings and deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A genotype-phenotype correlation for GJB2 (connexin 26) deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Molecular epidemiology of DFNB1 deafness in France

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2: the spectrum of deafness-causing allele variants and their phenotype.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

In silico prediction of the deleterious effect of a mutation: proceed with caution in clinical genetics

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

GJB2 gene mutations in newborns with non-syndromic hearing impairment in Northern China.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The structure of ion channels in membranes of excitable cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Gap junctions: new tools, new answers, new questions

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Universal newborn hearing screening--the Colorado story

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin-26 mutations in sporadic and inherited sensorineural deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identification of mutations in the connexin 26 gene that cause autosomal recessive nonsyndromic hearing loss.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin 26 gene linked to a dominant deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Newborn hearing screening: the great omission

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin mutations in deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Mutations in the human connexin gene GJB3 cause erythrokeratodermia variabilis

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genomics and hearing impairment.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of the prevalent form of childhood deafness, DFNB1, due to a connexin-26 gene defect: implications for genetic counselling.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Carrier rates in the midwestern United States for GJB2 mutations causing inherited deafness.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Three novel connexin26 gene mutations in autosomal recessive non-syndromic deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of the IVS2-2A>G DNA sequence variation in SLC26A5, encoding the cochlear motor protein prestin, precludes its involvement in hereditary hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Clinical phenotype and mutations in connexin 26 (DFNB1/GJB2), the most common cause of childhood hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High carrier frequency of the 35delG deafness mutation in European populations

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss

1 reference

https://pubmed.ncbi.nlm.nih.gov/17041943

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1002/AJMG.A.31525

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041943%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041943%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17041943%20AND%20SRC:MED&resulttype=core&format=json

20 December 2019

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